{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T15:23:19Z","timestamp":1791991399635,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,2,9]],"date-time":"2005-02-09T00:00:00Z","timestamp":1107907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>6\u2010Hexadecanoylamino\u20104\u2010methylumbelliferylphosphorylcholine (HMUPC) was shown to be a specific substrate for the determination of acid (lysosomal) sphingomyelinase (ASM; gene <jats:italic>SMPD1<\/jats:italic>). Fibroblasts (<jats:italic>n<\/jats:italic> = 27) and leukocytes (<jats:italic>n<\/jats:italic> = 8) from both the A and B types of Niemann\u2013Pick disease showed &lt; 6% and &lt; 10% of mean normal ASM activity, respectively. Niemann\u2013Pick A or B\u201d appears to be used with a very specific meaning. The Summary should be able to stand entirely alone from the text: should the use of this notation be expanded\/explained more fully here in the Summary [or is the phrase \u201cbearing the Q292K mutation\u201d sufficient]?} patients bearing the Q292K mutation had apparently normal ASM activity with our new artificial substrate. These patients with false\u2010normal sphingomyelinase activity, however, could readily be detected by determining the extent of inhibition of enzymatic hydrolysis of the artificial substrate HMU\u2010PC by an unlabelled natural substrate, in particular lysosphingomyelin. This approach is generally applicable. Our novel assay for ASM combines the ease of a rapid and robust enzyme assay using a fluorogenic substrate with the specificity of an ASM assay using a natural substrate. Such assays are obviously more convenient to the diagnostic laboratory, since radiolabelled substrates are not required.<\/jats:p>","DOI":"10.1007\/s10545-005-0105-y","type":"journal-article","created":{"date-parts":[[2005,9,7]],"date-time":"2005-09-07T19:05:23Z","timestamp":1126119923000},"page":"733-741","source":"Crossref","is-referenced-by-count":69,"title":["A new fluorimetric enzyme assay for the diagnosis of Niemann\u2013Pick A\/B, with specificity of natural sphingomyelinase substrate"],"prefix":"10.1002","volume":"28","author":[{"given":"O. P.","family":"van Diggelen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Centre  Rotterdam The Netherlands"},{"name":"Department of Clinical Genetics Erasmus MC  PO Box 1738 Ee 2402 DR Rotterdam 3000 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya. V.","family":"Voznyi","sequence":"additional","affiliation":[{"name":"Institute of Organic Chemistry  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L. M.","family":"Keulemans","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Centre  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Schoonderwoerd","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University Medical Centre  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Ledvinova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Mengel","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Mainz  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Zschiesche","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rostock  Rostock Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Santer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Children's Hospital  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Harzer","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Hospital  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,2,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800485"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02436762"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-44668"},{"key":"e_1_2_1_5_1","volume-title":"Proceedings of the 14th ESGLD Workshop","author":"Keulemans JLM","year":"2003"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005387932546"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-5671-5"},{"key":"e_1_2_1_8_1","first-page":"3421","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Schuchmann EH","year":"2001"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445608"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90396-6"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(90)90339-T"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.368"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10278"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0105-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:11:56Z","timestamp":1694740316000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0105-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,2,9]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1007\/s10545-005-0105-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0105-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,2,9]]}}}